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HelpTest Code SNS Supplemental Newborn Screen, Blood Spot
Additional Testing Requirements
A repeat specimen is required within 1 week of birth for infants tested before they are 12 hours old.
Specimen Required
Patient must be older than 12 hours and less than 1 week of age.
Supplies: Card-Blood Spot Collection Filter Paper (T493)
Preferred: Blood Spot Collection Card
Acceptable: Whatman Protein Saver 903 Paper, Munktell, PerkinElmer 226 filter paper, or local newborn screening card
Specimen Volume: 3 Blood spots
Collection Instructions:
1. Do not use device or capillary tube containing EDTA to collect specimen.
2. Completely fill at least 3 circles on the filter paper card (approximately 100 microliters blood per circle).
3. Let blood dry on the Blood Spot Collection Card at ambient temperature in a horizontal position for 3 hours.
4. Do not expose specimen to heat or direct sunlight.
5. Do not stack wet specimens.
6. Keep specimen dry.
Additional Information:
1. For collection instructions, see Blood Spot Collection Instructions.
2. For collection instructions in Spanish, see Blood Spot Collection Card-Spanish Instructions (T777).
3. For collection instructions in Chinese, see Blood Spot Collection Card-Chinese Instructions (T800).
Useful For
Presymptomatic identification of disorders to allow for early initiation of treatment and consequent improvement in the long-term prognosis of affected patients
The conditions identifiable by amino acid and acylcarnitine analysis are detected by supplemental newborn screening using tandem mass spectrometry (MS/MS) as described here.
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Analyte (assay platform) |
ACMG recommended conditions |
Additional conditions/treatment detectable by MS/MS |
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Core condition |
Secondary targets |
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Amino acids (MS/MS) |
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Phe |
PKU |
BS HPA REG |
TPN |
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Leu/Ile, Val |
MSUD |
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TPN |
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Met |
HCY |
Met |
TPN, nonspecific liver disease |
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Cit, Arg, ASA |
ASA CIT |
ARG CIT-II |
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Tyr |
TYR-I |
TYR-II TYR-III |
Nonspecific liver disease |
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GUAC |
GAMT |
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Acylcarnitines (MS/MS) |
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C0 |
CUD |
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Maternal CUD, maternal GA-I, maternal MCAD |
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C3 |
CblA, Cbl B MUT PA |
Cbl C, Cbl D |
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C4 |
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IBDH SCAD |
FIGLU |
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C5 |
IVA |
SBCAD |
Antibiotics containing pivalic acid |
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C5-OH |
BKT HMG MCC MCD |
MGA-I MHBD |
Maternal MCC, biotinidase deficiency |
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C8 |
MCAD |
GA-II MCKAT M/SCHAD |
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C3-DC |
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MAL |
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C10:2 |
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DR |
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C5-DC |
GA-I |
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C14:1, C16, C18:1 |
VLCAD |
CACT CPT-I CPT-II |
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C16-OH |
LCHAD TFP |
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m/z 225<399<473 |
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Dextrose infusion |
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m/z 342 (C8:1) |
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Artifact often observed in premature neonates |
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m/z 470 (C16:1OH) |
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Cefotaxime metabolite |
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Succinylacetone |
TYR-I |
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This test is not appropriate for metabolic screening of symptomatic patients.
Testing Algorithm
For more information see:
-Newborn Screen Follow-up for Elevated C5-DC
-Newborn Screen Follow-up for Isolated Elevation of C3-DC
-Newborn Screen Follow-up for Elevated C5-OH
-Newborn Screen Follow-up for Isolated Elevation of C3
-Newborn Screen Follow-up for Elevated C14:1 ± Other Long-Chain Acylcarnitine
-Newborn Screen Follow-up for Decreased Free Carnitine (C0)
-Newborn Screen Follow-up for Elevated C16 ± C18:1 Acylcarnitines
-Newborn Screen Follow-up for Elevated C0; Elevated C0/(C16+C18)
-Newborn Screen Follow-up for Elevated C16-OH ± C18-OH
-Newborn Screen Follow-up for Elevated C4-OH Acylcarnitine
-Newborn Screen Follow-up for Elevated C4 and C5 Acylcarnitine ±Other Elevated Acylcarnitines
Special Instructions
- Request for Original Newborn Screening Card
- Blood Spot Collection Card-Spanish Instructions
- Blood Spot Collection Card-Chinese Instructions
- Blood Spot Collection Instructions
- Newborn Screen Follow-up for Isolated Elevation of C3-DC
- Newborn Screen Follow-up for Elevated C5-DC
- Newborn Screen Follow-up for Elevated C5-OH
- Newborn Screen Follow-up for Isolated Elevation of C3
- Newborn Screen Follow-up for Decreased Free Carnitine (C0)
- Newborn Screen Follow-up for Elevated C14:1 ± Other Long-Chain Acylcarnitine
- Newborn Screen Follow-up for Elevated C16 ± C18:1 Acylcarnitines
- Newborn Screen Follow-up for Elevated C8 Acylcarnitine with Lesser Elevations of C6 and C10 Acylcarnitines
- Newborn Screen Follow-up for Elevated C0; Elevated C0/(C16+C18)
- Newborn Screen Follow-up for Elevated C16-OH ± C18-OH
- Newborn Screen Follow-up for Elevated C4 and C5 Acylcarnitine ±Other Elevated Acylcarnitines
- Newborn Screen Follow-up for Elevated C4-OH Acylcarnitine
Method Name
Flow Injection Analysis Tandem Mass Spectrometry (FIA-MS/MS)
Reporting Name
Supplemental Newborn Screen, BSSpecimen Type
Whole bloodSpecimen Minimum Volume
1 Blood spot
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Whole blood | Ambient (preferred) | FILTER PAPER | |
| Frozen | FILTER PAPER | ||
| Refrigerated | FILTER PAPER | ||
Reject Due To
| Blood spot specimen that shows serum rings or has multiple layers | Reject |
| Insufficient specimen | Reject |
| Unapproved filter papers | Reject |
Reference Values
An interpretive report will be provided.
Day(s) Performed
Monday through Saturday
Report Available
2 to 3 daysPerforming Laboratory
Mayo Clinic Laboratories in Rochester
Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
83789
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| SNS | Supplemental Newborn Screen, BS | 54089-8 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 82594 | Supplemental Newborn Screen Result | 54089-8 |
| 23727 | Reviewed By | 18771-6 |
Forms
If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.